Linked Data
ClinVar Variation Id:
356293
dbSNP Id:
rs188688680
ExAC:
6:31918558 G / A
gnomAD v2:
6-31918558-G-A
gnomAD v3:
6-31950781-G-A
gnomAD v4:
6-31950781-G-A
COSMIC:
COSM1643016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950781G>A , CM000668.2:g.31950781G>A | GRCh38 |
| NC_000006.11:g.31918558G>A , CM000668.1:g.31918558G>A | GRCh37 |
| NC_000006.10:g.32026537G>A | NCBI36 |
| NG_008191.1:g.9838G>A , LRG_136:g.9838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2179G>A | ||
| ENST00000483004.2:c.1562+9G>A | ENSP00000419887.2:n.1562+9G>A | |
| ENST00000698628.1:c.1625-363G>A | ENSP00000513848.1:n.1625-363G>A | |
| ENST00000698629.1:n.1964G>A | ||
| ENST00000698630.1:n.2494+9G>A | ||
| ENST00000698631.1:n.2495+9G>A | ||
| ENST00000698632.1:n.3298G>A | ||
| ENST00000698633.1:n.3188G>A | ||
| ENST00000698636.1:n.2009G>A | ||
| ENST00000425368.7:c.1778+9G>A MANE Select | ENSP00000416561.2:n.1778+9G>A | |
| ENST00000425368.6:c.1778+9G>A | ENSP00000416561.2:n.1778+9G>A | |
| ENST00000456570.5:c.3284+9G>A | ENSP00000410815.1:n.3284+9G>A | |
| ENST00000467360.1:n.904+9G>A | ||
| ENST00000477310.1:c.2831+9G>A | ENSP00000418996.1:n.2831+9G>A | |
| ENST00000483004.1:c.400+9G>A | ||
| NM_001710.5:c.1778+9G>A , LRG_136t1:c.1778+9G>A | NP_001701.2:n.1778+9G>A | |
| NM_001710.6:c.1778+9G>A MANE Select | NP_001701.2:n.1778+9G>A |